ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA127407
Gene: SLC4A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019359
ClinVar Variation:
17781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Glu480Lys
CA127406
NM_000342.4:c.1438G>A