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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:
CA1474384245
Gene: DSPP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612010T= , CM000666.2:g.87612010T=
GRCh38
NC_000004.11:g.88533162T= , CM000666.1:g.88533162T=
GRCh37
NC_000004.10:g.88752186T=
NCBI36
NG_011595.1:g.8482T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-95T=
MANE Select
ENSP00000498766.1:n.52-95T=
ENST00000282478.7:c.52-95T=
ENSP00000282478.7:n.52-95T=
ENST00000399271.5:c.52-95T=
ENSP00000382213.1:n.52-95T=
NM_014208.3:c.52-95T=
MANE Select
NP_055023.2:n.52-95T=
Search 100 bp 5'
Search 100 bp 3'