Allele Registry

Canonical Allele Identifier: PA645492223

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000311972

RCV000535300

RCV001651309

RCV002503989

RCV003955453

ClinVar Variation:

283760

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Thr1603Ile	CA8871575 NM_015295.3:c.4808C>T