Allele Registry

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.

Canonical Allele Identifier: PA645495923

Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423545

ClinVar RCV Id: RCV000486873 RCV000665532 RCV003168976

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Ser2724Tyr	CA1714417 NM_015120.4:c.8171C>A