ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828620211
Gene: GALNT7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2201530
ClinVar RCV:
RCV004080021
ClinVar Variation:
2213337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362528.1:p.Ser496Leu
CA3140594
NM_001375599.1:c.1487C>T