ClinGen Allele Registry
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Canonical Allele Identifier:
PA645374818
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Ser2071Arg
CA5265661
NM_001130438.3:c.6211A>C
CA5265662
NM_001130438.3:c.6213C>G
CA375087086
NM_001130438.3:c.6213C>A