ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174322
Gene: MAMLD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161551
ClinVar RCV Id:
RCV000149086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170936.1:p.Ser639Ile
CA174321
NM_001177465.3:c.1916G>T