ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221487
Gene: ACTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000578272
RCV000790672
ClinVar Variation:
93549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Gly148Ser
CA221485
NM_001100.4:c.442G>A