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: PA099341

Gene: MTFMT HGNC NCBI

Linked Data

ClinVar Variation Id: 39827

ClinVar RCV Id: RCV000033047 RCV000190888 RCV000320667 RCV000415235 RCV000735417 RCV002251943 RCV002513312 RCV002477042

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_640335.2:p.Ser209Leu	CA130599 NM_139242.4:c.626C>T