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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1873789229
Gene: ORM1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114325825C= , CM000671.2:g.114325825C=
GRCh38
NC_000009.11:g.117088105C= , CM000671.1:g.117088105C=
GRCh37
NC_000009.10:g.116127926C=
NCBI36
NG_012108.1:g.7803C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000259396.9:c.541-467C=
MANE Select
ENSP00000259396.8:n.541-467C=
ENST00000259396.8:c.541-467C=
ENSP00000259396.8:n.541-467C=
NM_000607.2:c.541-467C=
NP_000598.2:n.541-467C=
NM_000607.3:c.541-467C=
NP_000598.2:n.541-467C=
NM_000607.4:c.541-467C=
MANE Select
NP_000598.2:n.541-467C=
Search 100 bp 5'
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