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: PA271952

Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159010

ClinVar RCV Id: RCV000146490

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Ser320Pro	CA271950 NM_000252.3:c.958T>C