ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825655407
Gene: SPINK5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000519025
RCV000530328
RCV001260963
RCV003762759
ClinVar Variation:
449103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121171.1:p.Glu748Gly
CA3495925
NM_001127699.2:c.2243A>G