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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:
CA2407514268
Gene: SAMM50
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998522C= , CM000684.2:g.43998522C=
GRCh38
NC_000022.10:g.44394402C= , CM000684.1:g.44394402C=
GRCh37
NC_000022.9:g.42725735C=
NCBI36
NG_029057.1:g.48142C=
NG_029743.1:g.4312C=
NG_029057.2:g.48142C=
NG_029743.2:g.4312C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000465768.1:n.79+8116C=
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