ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829417681
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000440777
RCV002522382
ClinVar Variation:
387660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Arg2155Cys
CA5265709
NM_003127.4:c.6463C>T