ClinGen Allele Registry
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Canonical Allele Identifier:
PA241427
Gene: SERPINH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000175693
RCV000261310
RCV000763776
RCV003330534
ClinVar Variation:
195143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001226.2:p.Arg194Ser
CA241426
NM_001235.5:c.580C>A