Allele Registry

Canonical Allele Identifier: PA2826673528

Gene: TRPS1 HGNC NCBI

ClinVar Allele:

20618

ClinVar RCV:

RCV000005921

RCV000700955

ClinVar Variation:

5579

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269832.1:p.Arg958Cys	CA117618 NM_001282903.3:c.2872C>T