Canonical Allele Identifier: PA645492173
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288675
ClinVar RCV Id: RCV000361618 RCV001434919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Asp1290Tyr
CA8871326
NM_015295.3:c.3868G>T