ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741921077
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2573542
ClinVar RCV Id:
RCV003317878
RCV003638937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Ser1282Leu
CA10557127
NM_005334.3:c.3845C>T