ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645443995
Gene: MTTP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000244.2:p.Glu98Asp
NM_000253.4:c.294G>C
NM_000253.4:c.294G>T